ANKS4B

protein-coding

ankyrin repeat and sterile alpha motif domain containing 4B, the group of Sterile alpha motif domain containing|Ankyrin repeat domain containing

Gene summary

Predicted to enable myosin binding activity. Involved in brush border assembly; protein localization to microvillus; and protein-containing complex assembly. Located in brush border and microvillus. Is active in stereocilia ankle link. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_145865.3

Inheritance

—

ClinVar variants

U:41B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr16:21,233,699-21,253,850

External References & Databases

Ensembl (ENSG00000175311)

Transcript & Mutation Effects

hg38 • Region Span ~20.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKS4B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145865.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			41 clinvar	3 clinvar		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	3	0	44

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145865.3	RefSeq	NP_665872.2	2	MANE Select
ENST00000311620.7	Ensembl	ENSP00000308772.5	2	MANE Select
ENST00001126252.1	Ensembl	ENSP00000796057.1	2	Standard
ENST00001132775.1	Ensembl	ENSP00000806014.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell differentiation
cellular protein-containing complex assembly
response to endoplasmic reticulum stress
protein localization to microvillus
brush border assembly

Molecular Function

protein binding

Cellular Component

endoplasmic reticulum membrane
plasma membrane
microvillus
brush border

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311620
Coding exons: 2
Length: 18765
Individuals with no LoFs: 124764
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 124796
p: 0.000128

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.896	185	223	0.831	0.0000111	2766
Missense (PolyPhen)		68	77.307	0.87961		946
Synonymous	0.599	86	93.4	0.921	0.00000530	808
Loss of Function	0.944	9	12.6	0.713	6.18e-7	162

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000060	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00020	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity). {ECO:0000250|UniProtKB:Q8K3X6, ECO:0000269|PubMed:26812018}.;

Recessive Scores

pRec: 0.0898

Intolerance Scores

LoFtool: 0.670
RVIS EVS: 0.17
RVIS percentile EVS: 65.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.183

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium